WormBase Tree Display for DO_term: DOID:0070247
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| DOID:0070247 | Name | autosomal dominant Emery-Dreifuss muscular dystrophy 2 | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| Definition | An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of the LMNA gene on chromosome 1q22. | ||||
| Synonym | Exact | EDMD2 | |||
| EMD2 | |||||
| Emery-Dreifuss muscular dystrophy 2, autosomal dominant | |||||
| Emery-Dreifuss muscular dystrophy, autosomal dominant | |||||
| Hauptmann-Thannhauser muscular dystrophy | |||||
| autosomal dominant limb-girdle muscular dystrophy type 1B | |||||
| muscular dystrophy with early contractures and cardiomyopathy, autosomal dominant | |||||
| scapuloilioperoneal atrophy with cardiopathy | |||||
| Parent | Is_a | DOID:11726 | |||
| DOID:0050736 | |||||
| DB_info | Database | OMIM | disease | 181350 | |
| Attribute_of | Gene_by_orthology | WBGene00003052 |
